ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln)

gnomAD frequency: 0.00007  dbSNP: rs980412081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628871 SCV000749779 uncertain significance Hypertrophic cardiomyopathy 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 522 of the JPH2 protein (p.Arg522Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with JPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 524954). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001591404 SCV001814701 uncertain significance not provided 2024-03-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002404719 SCV002708753 uncertain significance Cardiovascular phenotype 2022-07-08 criteria provided, single submitter clinical testing The p.R522Q variant (also known as c.1565G>A), located in coding exon 4 of the JPH2 gene, results from a G to A substitution at nucleotide position 1565. The arginine at codon 522 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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